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Creatine transporter deficiency, an underdiagnosed cause of male intellectual disability
  1. Neha Jangid1,
  2. Priyanka Surana1,2,
  3. Gajja Salmonos3 and
  4. Vivek Jain1
  1. 1Department of Paediatric Neurology, Santokba Durlabhji Memorial Hospital cum Medical Research Institute, Jaipur, Rajasthan, India
  2. 2Glasgow Medical School, University of Glasgow College of Medical Veterinary and Life Sciences, Glasgow, UK
  3. 3Department of Genetic Metabolic Diseases/Metabolic Unit, VU University Medical Centre Amsterdam, Amsterdam, Noord-Holland, The Netherlands
  1. Correspondence to Dr Vivek Jain; vivekchildneuro{at}


X-linked creatine transporter deficiency is caused by the deficiency of the creatine transporter encoded by the SLC6A8 gene on Xq28. We here report a 3-year-old boy with global developmental delay, autism and epilepsy. He had a normal MRI of the brain. Brain magnetic resonance spectroscopy (MRS) subsequently showed an abnormally small creatine peak. His high urine creatine/creatinine ratio further suggested the diagnosis, later confirmed by hemizygous mutation detected in the SLC6A8 gene. His mother was also heterozygous for the same mutation. Supplementation with creatine monohydrate, arginine, and glycine (precursors of creatine) and supportive therapies, resulted in modest clinical improvement after 12 months. This case highlights the importance of doing MRS for boys with global delay/intellectual disability, autism and epilepsy even with a normal MRI of the brain, to pick up a potentially treatable cause.

  • developmental paediatrocs
  • neuro genetics

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  • Contributors NJ and PS were involved in the clinical care of the patient and writing the manuscript. GS had been involved in conducting the genetic testing of the patient and reviewing the manuscript. VJ was involved in clinical care of the patient and reviewed the manuscript.

  • Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.

  • Competing interests None declared.

  • Patient consent for publication Parental/guardian consent obtained.

  • Provenance and peer review Not commissioned; externally peer-reviewed.